Laps Ahead in the Gene Pool

16 November 2015

The future of health was a clear winner on Friday night at the SA Health Awards. SA Pathology's Genetics and Molecular Pathology Laboratory won the 'Excellence in Non-Clinical Services' category as the first laboratory in Australia to gain accreditation to test all 20,000 human genes in a single test, a major achievement in patient care.

Working in collaboration with the Centre for Cancer Biology and Australian Cancer Research Foundation, the Genomics Facility has introduced new technology, Next-Generation Sequencing, which vastly improves the speed of diagnosis for patients with genetic diseases.

These include familial cancer syndromes such as retinoblastoma, cardiac diseases and a wide range of childhood disorders, including intellectual disability. Many diseases identifiable by these new genetic testing methods were difficult to pinpoint or impossible to diagnose previously.

The benefits will primarily be felt by families who have children suffering from illnesses which often left health professionals guessing; these young patients can now be spared the long diagnostic process of having test after test. While many rare conditions don’t yet have effective treatments or cures, where genetic tests are able to identify disorders, doctors can help alleviate symptoms with new therapies and help people survive and manage their illnesses.

This major leap in technology is a result of computers with power to process enormous amounts of data rapidly. Previous genome sequencing timelines involved months and years to reach diagnosis; now results can be achieved in only weeks. The ability to test thousands of genes in a single test increases the chance of a precise diagnosis quickly, ultimately saving money.

Videos

SA Pathology had two projects short-listed for the 'Excellence in Non-Clinical Services' Award. These were: